Varaico: Literature-Extracted Genetic Variants

Gene:EVC2
Variant:p.W314*
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EVC2

NM_147127.5:p.W314*

Associated Papers

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

Altunoglu U et al.

Journal of Medical Genetics, 2024

Ellis-van Creveld Syndrome in Iran, a Case Report and Review of Disease Cases in Iran, Middle East.

Baghianimoghadam B et al.

Acta Medica Lituanic, 2021

Ellis-van Creveld syndrome: Report of a case and recurrent variant.

Eftekhariyazdi M et al.

The Journal of Gene Medicine, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."